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A metabolic disorder involving a mutation in PHYH gene, and an increase in the serum concentrations of pipecolic acid


Hyperpipecolatemia is a metabolic disorder caused by a dysfunctional peroxisome. Thus, it is one of the many types of peroxisomal disorder. Hyperpipecolatemia is a metabolic disorder caused by a mutation in the PHYH gene. In humans, this gene codes for phytanoyl-CoA hydroxylase, i.e. an enzyme essential for the alpha-oxidation of branched chain fatty acids (e.g. phytanic acid) within the lysosomes. Thus, hyperpipecolatemia may be associated with other peroxisomal disorders, such as Refsum disease and Zellweger syndrome.

Hyperpipecolatemia is characterized by the presence of pipecolic acid in excess. Pipecolic acid is an organic molecule and a carboxylic acid of piperidine. An increase of this molecule in the blood may lead to hepatomegaly, neuropathty, and progressive, generalised demyelination of the nervous system.

The condition is inherited in an autosomal recessive pattern. This means that the individual has two copies of the defective gene and therefore manifests symptoms associated with the disease. A carrier of the disease would have only one copy of the defective gene and therefore may not show symptoms.


  • hyperpipecolic acidemia
  • pipecolic acidemia

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